Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21575671G>A | CA731315878 | ALPL | c.998-62G>A (n.998-62G>A) n.267-62G>A c.73-62G>A c.767-62G>A (n.767-62G>A) c.833-62G>A (n.833-62G>A) c.842-62G>A (n.842-62G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575671G>C | CA1158019250 | ALPL | c.998-62G>C (n.998-62G>C) n.267-62G>C c.73-62G>C c.767-62G>C (n.767-62G>C) c.833-62G>C (n.833-62G>C) c.842-62G>C (n.842-62G>C) | dbSNP gnomAD v4 |
1 | g.21575671G= | CA1158019249 | ALPL | c.998-62G= (n.998-62G=) n.267-62G= c.73-62G= c.767-62G= (n.767-62G=) c.833-62G= (n.833-62G=) c.842-62G= (n.842-62G=) | |
1 | g.21575671G>T | CA2643931706 | ALPL | c.998-62G>T (n.998-62G>T) n.267-62G>T c.73-62G>T c.767-62G>T (n.767-62G>T) c.833-62G>T (n.833-62G>T) c.842-62G>T (n.842-62G>T) | gnomAD v4 |
1 | g.21575672G= | CA1158019251 | ALPL | c.998-61G= (n.998-61G=) n.267-61G= c.73-61G= c.767-61G= (n.767-61G=) c.833-61G= (n.833-61G=) c.842-61G= (n.842-61G=) | |
1 | g.21575672G>T | CA1158019252 | ALPL | c.998-61G>T (n.998-61G>T) n.267-61G>T c.73-61G>T c.767-61G>T (n.767-61G>T) c.833-61G>T (n.833-61G>T) c.842-61G>T (n.842-61G>T) | dbSNP gnomAD v4 |
1 | g.21575675G>A | CA2574253126 | ALPL | c.998-58G>A (n.998-58G>A) n.267-58G>A c.73-58G>A c.767-58G>A (n.767-58G>A) c.833-58G>A (n.833-58G>A) c.842-58G>A (n.842-58G>A) | |
1 | g.21575675G>C | CA2643931708 | ALPL | c.998-58G>C (n.998-58G>C) n.267-58G>C c.73-58G>C c.767-58G>C (n.767-58G>C) c.833-58G>C (n.833-58G>C) c.842-58G>C (n.842-58G>C) | gnomAD v4 |
1 | g.21575675G>T | CA2574253127 | ALPL | c.998-58G>T (n.998-58G>T) n.267-58G>T c.73-58G>T c.767-58G>T (n.767-58G>T) c.833-58G>T (n.833-58G>T) c.842-58G>T (n.842-58G>T) | |
1 | g.21575678del | CA2643931707 | ALPL | c.998-55del (n.998-55del) n.267-55del c.73-55del c.767-55del (n.767-55del) c.833-55del (n.833-55del) c.842-55del (n.842-55del) | gnomAD v4 |
1 | g.21575676G>A | CA2643931709 | ALPL | c.998-57G>A (n.998-57G>A) n.267-57G>A c.73-57G>A c.767-57G>A (n.767-57G>A) c.833-57G>A (n.833-57G>A) c.842-57G>A (n.842-57G>A) | gnomAD v4 |
1 | g.21575676G= | CA1158019253 | ALPL | c.998-57G= (n.998-57G=) n.267-57G= c.73-57G= c.767-57G= (n.767-57G=) c.833-57G= (n.833-57G=) c.842-57G= (n.842-57G=) | |
1 | g.21575676G>T | CA1158019254 | ALPL | c.998-57G>T (n.998-57G>T) n.267-57G>T c.73-57G>T c.767-57G>T (n.767-57G>T) c.833-57G>T (n.833-57G>T) c.842-57G>T (n.842-57G>T) | dbSNP gnomAD v4 |
1 | g.21575678G>A | CA19070038 | ALPL | c.998-55G>A (n.998-55G>A) n.267-55G>A c.73-55G>A c.767-55G>A (n.767-55G>A) c.833-55G>A (n.833-55G>A) c.842-55G>A (n.842-55G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575678G= | CA1158019255 | ALPL | c.998-55G= (n.998-55G=) n.267-55G= c.73-55G= c.767-55G= (n.767-55G=) c.833-55G= (n.833-55G=) c.842-55G= (n.842-55G=) | |
1 | g.21575679A= | CA1158019256 | ALPL | c.998-54A= (n.998-54A=) n.267-54A= c.73-54A= c.767-54A= (n.767-54A=) c.833-54A= (n.833-54A=) c.842-54A= (n.842-54A=) | |
1 | g.21575679A>G | CA731315881 | ALPL | c.998-54A>G (n.998-54A>G) n.267-54A>G c.73-54A>G c.767-54A>G (n.767-54A>G) c.833-54A>G (n.833-54A>G) c.842-54A>G (n.842-54A>G) | dbSNP gnomAD v4 |
1 | g.21575679_21575680insCT | CA2643931710 | ALPL | c.998-54_998-53insCT (n.998-54_998-53insCT) n.267-54_267-53insCT c.73-54_73-53insCT c.767-54_767-53insCT (n.767-54_767-53insCT) c.833-54_833-53insCT (n.833-54_833-53insCT) c.842-54_842-53insCT (n.842-54_842-53insCT) | gnomAD v4 |
1 | g.21575679_21575680insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT | CA2643931711 | ALPL | c.998-54_998-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT (n.998-54_998-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT) n.267-54_267-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT c.73-54_73-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT c.767-54_767-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT (n.767-54_767-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT) c.833-54_833-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT (n.833-54_833-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT) c.842-54_842-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT (n.842-54_842-53insCTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGT) | gnomAD v4 |
1 | g.21575680G>A | CA999410604 | ALPL | c.998-53G>A (n.998-53G>A) n.267-53G>A c.73-53G>A c.767-53G>A (n.767-53G>A) c.833-53G>A (n.833-53G>A) c.842-53G>A (n.842-53G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575680G= | CA1158019257 | ALPL | c.998-53G= (n.998-53G=) n.267-53G= c.73-53G= c.767-53G= (n.767-53G=) c.833-53G= (n.833-53G=) c.842-53G= (n.842-53G=) | |
1 | g.21575680_21575681insTACTCCTGGGGCCC | CA2643931712 | ALPL | c.998-53_998-52insTACTCCTGGGGCCC (n.998-53_998-52insTACTCCTGGGGCCC) n.267-53_267-52insTACTCCTGGGGCCC c.73-53_73-52insTACTCCTGGGGCCC c.767-53_767-52insTACTCCTGGGGCCC (n.767-53_767-52insTACTCCTGGGGCCC) c.833-53_833-52insTACTCCTGGGGCCC (n.833-53_833-52insTACTCCTGGGGCCC) c.842-53_842-52insTACTCCTGGGGCCC (n.842-53_842-52insTACTCCTGGGGCCC) | gnomAD v4 |
1 | g.21575681C= | CA1158019258 | ALPL | c.998-52C= (n.998-52C=) n.267-52C= c.73-52C= c.767-52C= (n.767-52C=) c.833-52C= (n.833-52C=) c.842-52C= (n.842-52C=) | |
1 | g.21575681C>T | CA999410607 | ALPL | c.998-52C>T (n.998-52C>T) n.267-52C>T c.73-52C>T c.767-52C>T (n.767-52C>T) c.833-52C>T (n.833-52C>T) c.842-52C>T (n.842-52C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575684A= | CA1158019259 | ALPL | c.998-49A= (n.998-49A=) n.267-49A= c.73-49A= c.767-49A= (n.767-49A=) c.833-49A= (n.833-49A=) c.842-49A= (n.842-49A=) | |
1 | g.21575684A>G | CA521899890 | ALPL | c.998-49A>G (n.998-49A>G) n.267-49A>G c.73-49A>G c.767-49A>G (n.767-49A>G) c.833-49A>G (n.833-49A>G) c.842-49A>G (n.842-49A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575687_21575689del | CA2643931713 | ALPL | c.998-46_998-44del (n.998-46_998-44del) n.267-46_267-44del c.73-46_73-44del c.767-46_767-44del (n.767-46_767-44del) c.833-46_833-44del (n.833-46_833-44del) c.842-46_842-44del (n.842-46_842-44del) | gnomAD v4 |
1 | g.21575686C>A | CA19070044 | ALPL | c.998-47C>A (n.998-47C>A) n.267-47C>A c.73-47C>A c.767-47C>A (n.767-47C>A) c.833-47C>A (n.833-47C>A) c.842-47C>A (n.842-47C>A) | dbSNP |
1 | g.21575686C= | CA1144165148 | ALPL | c.998-47C= (n.998-47C=) n.267-47C= c.73-47C= c.767-47C= (n.767-47C=) c.833-47C= (n.833-47C=) c.842-47C= (n.842-47C=) | |
1 | g.21575695_21575702del | CA2574253128 | ALPL | c.998-38_998-31del (n.998-38_998-31del) n.267-38_267-31del c.73-38_73-31del c.767-38_767-31del (n.767-38_767-31del) c.833-38_833-31del (n.833-38_833-31del) c.842-38_842-31del (n.842-38_842-31del) | gnomAD v4 |
1 | g.21575689C= | CA1158019260 | ALPL | c.998-44C= (n.998-44C=) n.267-44C= c.73-44C= c.767-44C= (n.767-44C=) c.833-44C= (n.833-44C=) c.842-44C= (n.842-44C=) | |
1 | g.21575689C>T | CA666710 | ALPL | c.998-44C>T (n.998-44C>T) n.267-44C>T c.73-44C>T c.767-44C>T (n.767-44C>T) c.833-44C>T (n.833-44C>T) c.842-44C>T (n.842-44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575691_21575692delinsTC | CA1158019261 | ALPL | c.998-42_998-41delinsTC (n.998-42_998-41delinsTC) n.267-42_267-41delinsTC c.73-42_73-41delinsTC c.767-42_767-41delinsTC (n.767-42_767-41delinsTC) c.833-42_833-41delinsTC (n.833-42_833-41delinsTC) c.842-42_842-41delinsTC (n.842-42_842-41delinsTC) | |
1 | g.21575695del | CA19070048 | ALPL | c.998-38del (n.998-38del) n.267-38del c.73-38del c.767-38del (n.767-38del) c.833-38del (n.833-38del) c.842-38del (n.842-38del) | dbSNP |
1 | g.21575693C>A | CA2574253129 | ALPL | c.998-40C>A (n.998-40C>A) n.267-40C>A c.73-40C>A c.767-40C>A (n.767-40C>A) c.833-40C>A (n.833-40C>A) c.842-40C>A (n.842-40C>A) | |
1 | g.21575693C= | CA1158019262 | ALPL | c.998-40C= (n.998-40C=) n.267-40C= c.73-40C= c.767-40C= (n.767-40C=) c.833-40C= (n.833-40C=) c.842-40C= (n.842-40C=) | |
1 | g.21575693C>T | CA521899891 | ALPL | c.998-40C>T (n.998-40C>T) n.267-40C>T c.73-40C>T c.767-40C>T (n.767-40C>T) c.833-40C>T (n.833-40C>T) c.842-40C>T (n.842-40C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575694C= | CA1144978252 | ALPL | c.998-39C= (n.998-39C=) n.267-39C= c.73-39C= c.767-39C= (n.767-39C=) c.833-39C= (n.833-39C=) c.842-39C= (n.842-39C=) | |
1 | g.21575694C>G | CA666711 | ALPL | c.998-39C>G (n.998-39C>G) n.267-39C>G c.73-39C>G c.767-39C>G (n.767-39C>G) c.833-39C>G (n.833-39C>G) c.842-39C>G (n.842-39C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575694C>T | CA19070055 | ALPL | c.998-39C>T (n.998-39C>T) n.267-39C>T c.73-39C>T c.767-39C>T (n.767-39C>T) c.833-39C>T (n.833-39C>T) c.842-39C>T (n.842-39C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575695C>A | CA2643931714 | ALPL | c.998-38C>A (n.998-38C>A) n.267-38C>A c.73-38C>A c.767-38C>A (n.767-38C>A) c.833-38C>A (n.833-38C>A) c.842-38C>A (n.842-38C>A) | gnomAD v4 |
1 | g.21575695C= | CA1158019263 | ALPL | c.998-38C= (n.998-38C=) n.267-38C= c.73-38C= c.767-38C= (n.767-38C=) c.833-38C= (n.833-38C=) c.842-38C= (n.842-38C=) | |
1 | g.21575695C>T | CA521899892 | ALPL | c.998-38C>T (n.998-38C>T) n.267-38C>T c.73-38C>T c.767-38C>T (n.767-38C>T) c.833-38C>T (n.833-38C>T) c.842-38C>T (n.842-38C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575696T>C | CA2643931715 | ALPL | c.998-37T>C (n.998-37T>C) n.267-37T>C c.73-37T>C c.767-37T>C (n.767-37T>C) c.833-37T>C (n.833-37T>C) c.842-37T>C (n.842-37T>C) | gnomAD v4 |
1 | g.21575698C>T | CA2643931716 | ALPL | c.998-35C>T (n.998-35C>T) n.267-35C>T c.73-35C>T c.767-35C>T (n.767-35C>T) c.833-35C>T (n.833-35C>T) c.842-35C>T (n.842-35C>T) | gnomAD v4 |
1 | g.21575699T>C | CA2574253131 | ALPL | c.998-34T>C (n.998-34T>C) n.267-34T>C c.73-34T>C c.767-34T>C (n.767-34T>C) c.833-34T>C (n.833-34T>C) c.842-34T>C (n.842-34T>C) | |
1 | g.21575700C= | CA1158019264 | ALPL | c.998-33C= (n.998-33C=) n.267-33C= c.73-33C= c.767-33C= (n.767-33C=) c.833-33C= (n.833-33C=) c.842-33C= (n.842-33C=) | |
1 | g.21575700C>G | CA1158019265 | ALPL | c.998-33C>G (n.998-33C>G) n.267-33C>G c.73-33C>G c.767-33C>G (n.767-33C>G) c.833-33C>G (n.833-33C>G) c.842-33C>G (n.842-33C>G) | dbSNP |
1 | g.21575701C>A | CA2643931717 | ALPL | c.998-32C>A (n.998-32C>A) n.267-32C>A c.73-32C>A c.767-32C>A (n.767-32C>A) c.833-32C>A (n.833-32C>A) c.842-32C>A (n.842-32C>A) | gnomAD v4 |
1 | g.21575701C>T | CA2643931718 | ALPL | c.998-32C>T (n.998-32C>T) n.267-32C>T c.73-32C>T c.767-32C>T (n.767-32C>T) c.833-32C>T (n.833-32C>T) c.842-32C>T (n.842-32C>T) | gnomAD v4 |
1 | g.21575702C= | CA1143595076 | ALPL | c.998-31C= (n.998-31C=) n.267-31C= c.73-31C= c.767-31C= (n.767-31C=) c.833-31C= (n.833-31C=) c.842-31C= (n.842-31C=) | |
1 | g.21575702C>G | CA666713 | ALPL | c.998-31C>G (n.998-31C>G) n.267-31C>G c.73-31C>G c.767-31C>G (n.767-31C>G) c.833-31C>G (n.833-31C>G) c.842-31C>G (n.842-31C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575702C>T | CA666712 | ALPL | c.998-31C>T (n.998-31C>T) n.267-31C>T c.73-31C>T c.767-31C>T (n.767-31C>T) c.833-31C>T (n.833-31C>T) c.842-31C>T (n.842-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575706C>T | CA2643931719 | ALPL | c.998-27C>T (n.998-27C>T) n.267-27C>T c.73-27C>T c.767-27C>T (n.767-27C>T) c.833-27C>T (n.833-27C>T) c.842-27C>T (n.842-27C>T) | gnomAD v4 |
1 | g.21575707C= | CA1158019266 | ALPL | c.998-26C= (n.998-26C=) n.267-26C= c.73-26C= c.767-26C= (n.767-26C=) c.833-26C= (n.833-26C=) c.842-26C= (n.842-26C=) | |
1 | g.21575707C>T | CA666714 | ALPL | c.998-26C>T (n.998-26C>T) n.267-26C>T c.73-26C>T c.767-26C>T (n.767-26C>T) c.833-26C>T (n.833-26C>T) c.842-26C>T (n.842-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575708G>A | CA666716 | ALPL | c.998-25G>A (n.998-25G>A) n.267-25G>A c.73-25G>A c.767-25G>A (n.767-25G>A) c.833-25G>A (n.833-25G>A) c.842-25G>A (n.842-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575708G>C | CA666715 | ALPL | c.998-25G>C (n.998-25G>C) n.267-25G>C c.73-25G>C c.767-25G>C (n.767-25G>C) c.833-25G>C (n.833-25G>C) c.842-25G>C (n.842-25G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575708G= | CA1158019267 | ALPL | c.998-25G= (n.998-25G=) n.267-25G= c.73-25G= c.767-25G= (n.767-25G=) c.833-25G= (n.833-25G=) c.842-25G= (n.842-25G=) | |
1 | g.21575709_21575710delinsAG | CA1158019268 | ALPL | c.998-24_998-23delinsAG (n.998-24_998-23delinsAG) n.267-24_267-23delinsAG c.73-24_73-23delinsAG c.767-24_767-23delinsAG (n.767-24_767-23delinsAG) c.833-24_833-23delinsAG (n.833-24_833-23delinsAG) c.842-24_842-23delinsAG (n.842-24_842-23delinsAG) | |
1 | g.21575710G>A | CA731315902 | ALPL | c.998-23G>A (n.998-23G>A) n.267-23G>A c.73-23G>A c.767-23G>A (n.767-23G>A) c.833-23G>A (n.833-23G>A) c.842-23G>A (n.842-23G>A) | dbSNP |
1 | g.21575710G= | CA1158019269 | ALPL | c.998-23G= (n.998-23G=) n.267-23G= c.73-23G= c.767-23G= (n.767-23G=) c.833-23G= (n.833-23G=) c.842-23G= (n.842-23G=) | |
1 | g.21575711del | CA666717 | ALPL | c.998-22del (n.998-22del) n.267-22del c.73-22del c.767-22del (n.767-22del) c.833-22del (n.833-22del) c.842-22del (n.842-22del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575711G>A | CA521899893 | ALPL | c.998-22G>A (n.998-22G>A) n.267-22G>A c.73-22G>A c.767-22G>A (n.767-22G>A) c.833-22G>A (n.833-22G>A) c.842-22G>A (n.842-22G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575711G>C | CA2695269505 | ALPL | c.998-22G>C (n.998-22G>C) n.267-22G>C c.73-22G>C c.767-22G>C (n.767-22G>C) c.833-22G>C (n.833-22G>C) c.842-22G>C (n.842-22G>C) | dbSNP |
1 | g.21575711G= | CA1158019270 | ALPL | c.998-22G= (n.998-22G=) n.267-22G= c.73-22G= c.767-22G= (n.767-22G=) c.833-22G= (n.833-22G=) c.842-22G= (n.842-22G=) | |
1 | g.21575712C>T | CA2643931721 | ALPL | c.998-21C>T (n.998-21C>T) n.267-21C>T c.73-21C>T c.767-21C>T (n.767-21C>T) c.833-21C>T (n.833-21C>T) c.842-21C>T (n.842-21C>T) | gnomAD v4 |
1 | g.21575713del | CA2643931720 | ALPL | c.998-20del (n.998-20del) n.267-20del c.73-20del c.767-20del (n.767-20del) c.833-20del (n.833-20del) c.842-20del (n.842-20del) | gnomAD v4 |
1 | g.21575712_21575713insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT | CA2550890593 | ALPL | c.998-21_998-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT (n.998-21_998-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT) n.267-21_267-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT c.73-21_73-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT c.767-21_767-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT (n.767-21_767-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT) c.833-21_833-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT (n.833-21_833-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT) c.842-21_842-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT (n.842-21_842-20insGCCCATCACCGCCCGCAGCGAGGGTGACACGCTGCGCATCCCCTTCAGCAGCTCCATCAGCGACGCCCGCCTGCAGGTAGCCGAGCAGGCCGACTGGATCGAGACCAAGCTCCAGCAGGGCATGCTCCT) | |
1 | g.21575718C= | CA1158019271 | ALPL | c.998-15C= (n.998-15C=) n.267-15C= c.73-15C= c.767-15C= (n.767-15C=) c.833-15C= (n.833-15C=) c.842-15C= (n.842-15C=) | |
1 | g.21575718C>T | CA1158019272 | ALPL | c.998-15C>T (n.998-15C>T) n.267-15C>T c.73-15C>T c.767-15C>T (n.767-15C>T) c.833-15C>T (n.833-15C>T) c.842-15C>T (n.842-15C>T) | dbSNP gnomAD v4 |
1 | g.21575719C= | CA1158019273 | ALPL | c.998-14C= (n.998-14C=) n.267-14C= c.73-14C= c.767-14C= (n.767-14C=) c.833-14C= (n.833-14C=) c.842-14C= (n.842-14C=) | |
1 | g.21575719C>T | CA521899894 | ALPL | c.998-14C>T (n.998-14C>T) n.267-14C>T c.73-14C>T c.767-14C>T (n.767-14C>T) c.833-14C>T (n.833-14C>T) c.842-14C>T (n.842-14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575720T>C | CA2643931722 | ALPL | c.998-13T>C (n.998-13T>C) n.267-13T>C c.73-13T>C c.767-13T>C (n.767-13T>C) c.833-13T>C (n.833-13T>C) c.842-13T>C (n.842-13T>C) | gnomAD v4 |
1 | g.21575720T>G | CA999410628 | ALPL | c.998-13T>G (n.998-13T>G) n.267-13T>G c.73-13T>G c.767-13T>G (n.767-13T>G) c.833-13T>G (n.833-13T>G) c.842-13T>G (n.842-13T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575720T= | CA1158019274 | ALPL | c.998-13T= (n.998-13T=) n.267-13T= c.73-13T= c.767-13T= (n.767-13T=) c.833-13T= (n.833-13T=) c.842-13T= (n.842-13T=) | |
1 | g.21575721_21575722delinsTG | CA1158019275 | ALPL | c.998-12_998-11delinsTG (n.998-12_998-11delinsTG) n.267-12_267-11delinsTG c.73-12_73-11delinsTG c.767-12_767-11delinsTG (n.767-12_767-11delinsTG) c.833-12_833-11delinsTG (n.833-12_833-11delinsTG) c.842-12_842-11delinsTG (n.842-12_842-11delinsTG) | |
1 | g.21575723del | CA1158019276 | ALPL | c.998-10del (n.998-10del) n.267-10del c.73-10del c.767-10del (n.767-10del) c.833-10del (n.833-10del) c.842-10del (n.842-10del) | ClinVar dbSNP |
1 | g.21575723G>A | CA521899895 | ALPL | c.998-10G>A (n.998-10G>A) n.267-10G>A c.73-10G>A c.767-10G>A (n.767-10G>A) c.833-10G>A (n.833-10G>A) c.842-10G>A (n.842-10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575723G>C | CA2580061460 | ALPL | c.998-10G>C (n.998-10G>C) n.267-10G>C c.73-10G>C c.767-10G>C (n.767-10G>C) c.833-10G>C (n.833-10G>C) c.842-10G>C (n.842-10G>C) | ClinVar |
1 | g.21575723G= | CA1158019277 | ALPL | c.998-10G= (n.998-10G=) n.267-10G= c.73-10G= c.767-10G= (n.767-10G=) c.833-10G= (n.833-10G=) c.842-10G= (n.842-10G=) | |
1 | g.21575726del | CA2574253135 | ALPL | c.998-7del (n.998-7del) n.267-7del c.73-7del c.767-7del (n.767-7del) c.833-7del (n.833-7del) c.842-7del (n.842-7del) | |
1 | g.21575727C>T | CA2573130547 | ALPL | c.998-6C>T (n.998-6C>T) n.267-6C>T c.73-6C>T c.767-6C>T (n.767-6C>T) c.833-6C>T (n.833-6C>T) c.842-6C>T (n.842-6C>T) | ClinVar dbSNP |
1 | g.21575728C= | CA1158019278 | ALPL | c.998-5C= (n.998-5C=) n.267-5C= c.73-5C= c.767-5C= (n.767-5C=) c.833-5C= (n.833-5C=) c.842-5C= (n.842-5C=) | |
1 | g.21575728C>T | CA521899896 | ALPL | c.998-5C>T (n.998-5C>T) n.267-5C>T c.73-5C>T c.767-5C>T (n.767-5C>T) c.833-5C>T (n.833-5C>T) c.842-5C>T (n.842-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575729C>A | CA2574253136 | ALPL | c.998-4C>A (n.998-4C>A) n.267-4C>A c.73-4C>A c.767-4C>A (n.767-4C>A) c.833-4C>A (n.833-4C>A) c.842-4C>A (n.842-4C>A) | |
1 | g.21575730A= | CA1158019279 | ALPL | c.998-3A= (n.998-3A=) n.267-3A= c.73-3A= c.767-3A= (n.767-3A=) c.833-3A= (n.833-3A=) c.842-3A= (n.842-3A=) | |
1 | g.21575730A>G | CA999410629 | ALPL | c.998-3A>G (n.998-3A>G) n.267-3A>G c.73-3A>G c.767-3A>G (n.767-3A>G) c.833-3A>G (n.833-3A>G) c.842-3A>G (n.842-3A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575731A= | CA1158019280 | ALPL | c.998-2A= (n.998-2A=) n.267-2A= c.73-2A= c.767-2A= (n.767-2A=) c.833-2A= (n.833-2A=) c.842-2A= (n.842-2A=) | |
1 | g.21575731A>C | CA338880922 | ALPL | c.998-2A>C (n.998-2A>C) n.267-2A>C c.73-2A>C c.767-2A>C (n.767-2A>C) c.833-2A>C (n.833-2A>C) c.842-2A>C (n.842-2A>C) | gnomAD v4 |
1 | g.21575731A>G | CA16040721 | ALPL | c.998-2A>G (n.998-2A>G) n.267-2A>G c.73-2A>G c.767-2A>G (n.767-2A>G) c.833-2A>G (n.833-2A>G) c.842-2A>G (n.842-2A>G) | ClinVar dbSNP gnomAD v4 |
1 | g.21575731A>T | CA338880925 | ALPL | c.998-2A>T (n.998-2A>T) n.267-2A>T c.73-2A>T c.767-2A>T (n.767-2A>T) c.833-2A>T (n.833-2A>T) c.842-2A>T (n.842-2A>T) | |
1 | g.21575732G>A | CA338880927 | ALPL | c.998-1G>A (n.998-1G>A) n.267-1G>A c.73-1G>A c.767-1G>A (n.767-1G>A) c.833-1G>A (n.833-1G>A) c.842-1G>A (n.842-1G>A) | gnomAD v4 COSMIC |
1 | g.21575732G>C | CA338880929 | ALPL | c.998-1G>C (n.998-1G>C) n.267-1G>C c.73-1G>C c.767-1G>C (n.767-1G>C) c.833-1G>C (n.833-1G>C) c.842-1G>C (n.842-1G>C) | |
1 | g.21575732G>T | CA338880931 | ALPL | c.998-1G>T (n.998-1G>T) n.267-1G>T c.73-1G>T c.767-1G>T (n.767-1G>T) c.833-1G>T (n.833-1G>T) c.842-1G>T (n.842-1G>T) | |
1 | g.21575733G>A | CA338880932 | ALPL | c.998G>A (p.Gly333Glu) n.267G>A c.73G>A c.767G>A (p.Gly256Glu) c.833G>A (p.Gly278Glu) c.842G>A (p.Gly281Glu) | |
1 | g.21575733G>C | CA338880934 | ALPL | c.998G>C (p.Gly333Ala) n.267G>C c.73G>C c.767G>C (p.Gly256Ala) c.833G>C (p.Gly278Ala) c.842G>C (p.Gly281Ala) | |
1 | g.21575733G>T | CA338880936 | ALPL | c.998G>T (p.Gly333Val) n.267G>T c.73G>T c.767G>T (p.Gly256Val) c.833G>T (p.Gly278Val) c.842G>T (p.Gly281Val) | |
1 | g.21575734A= | CA1158019281 | ALPL | c.999A= (p.Gly333=) n.268A= c.74A= c.768A= (p.Gly256=) c.834A= (p.Gly278=) c.843A= (p.Gly281=) | |
1 | g.21575734A>C | CA416532761 | ALPL | c.999A>C (p.Gly333=) n.268A>C c.74A>C c.768A>C (p.Gly256=) c.834A>C (p.Gly278=) c.843A>C (p.Gly281=) | |
1 | g.21575734A>G | CA416532760 | ALPL | c.999A>G (p.Gly333=) n.268A>G c.74A>G c.768A>G (p.Gly256=) c.834A>G (p.Gly278=) c.843A>G (p.Gly281=) | ClinVar dbSNP gnomAD v4 |
1 | g.21575734A>T | CA416532763 | ALPL | c.999A>T (p.Gly333=) n.268A>T c.74A>T c.768A>T (p.Gly256=) c.834A>T (p.Gly278=) c.843A>T (p.Gly281=) | |
1 | g.21575735G>A | CA666718 | ALPL | c.1000G>A (p.Gly334Ser) n.269G>A c.75G>A c.769G>A (p.Gly257Ser) c.835G>A (p.Gly279Ser) c.844G>A (p.Gly282Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575735G>C | CA338880940 | ALPL | c.1000G>C (p.Gly334Arg) n.269G>C c.75G>C c.769G>C (p.Gly257Arg) c.835G>C (p.Gly279Arg) c.844G>C (p.Gly282Arg) | |
1 | g.21575735G= | CA1158019282 | ALPL | c.1000G= (p.Gly334=) n.269G= c.75G= c.769G= (p.Gly257=) c.835G= (p.Gly279=) c.844G= (p.Gly282=) | |
1 | g.21575735G>T | CA338880938 | ALPL | c.1000G>T (p.Gly334Cys) n.269G>T c.75G>T c.769G>T (p.Gly257Cys) c.835G>T (p.Gly279Cys) c.844G>T (p.Gly282Cys) | |
1 | g.21575736G>A | CA256929 | ALPL | c.1001G>A (p.Gly334Asp) n.270G>A c.76G>A c.770G>A (p.Gly257Asp) c.836G>A (p.Gly279Asp) c.845G>A (p.Gly282Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.21575736G>C | CA338880943 | ALPL | c.1001G>C (p.Gly334Ala) n.270G>C c.76G>C c.770G>C (p.Gly257Ala) c.836G>C (p.Gly279Ala) c.845G>C (p.Gly282Ala) | |
1 | g.21575736G= | CA1141580646 | ALPL | c.1001G= (p.Gly334=) n.270G= c.76G= c.770G= (p.Gly257=) c.836G= (p.Gly279=) c.845G= (p.Gly282=) | |
1 | g.21575736G>T | CA338880944 | ALPL | c.1001G>T (p.Gly334Val) n.270G>T c.76G>T c.770G>T (p.Gly257Val) c.836G>T (p.Gly279Val) c.845G>T (p.Gly282Val) | COSMIC |
1 | g.21575737C>A | CA416532768 | ALPL | c.1002C>A (p.Gly334=) n.271C>A c.77C>A c.771C>A (p.Gly257=) c.837C>A (p.Gly279=) c.846C>A (p.Gly282=) | dbSNP |
1 | g.21575737C= | CA1143708664 | ALPL | c.1002C= (p.Gly334=) n.271C= c.77C= c.771C= (p.Gly257=) c.837C= (p.Gly279=) c.846C= (p.Gly282=) | |
1 | g.21575737C>G | CA416532769 | ALPL | c.1002C>G (p.Gly334=) n.271C>G c.77C>G c.771C>G (p.Gly257=) c.837C>G (p.Gly279=) c.846C>G (p.Gly282=) | |
1 | g.21575737C>T | CA666719 | ALPL | c.1002C>T (p.Gly334=) n.271C>T c.77C>T c.771C>T (p.Gly257=) c.837C>T (p.Gly279=) c.846C>T (p.Gly282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575738A>C | CA416532771 | ALPL | c.1003A>C (p.Arg335=) n.272A>C c.78A>C c.772A>C (p.Arg258=) c.838A>C (p.Arg280=) c.847A>C (p.Arg283=) | ClinVar |
1 | g.21575738A>G | CA338880945 | ALPL | c.1003A>G (p.Arg335Gly) n.272A>G c.78A>G c.772A>G (p.Arg258Gly) c.838A>G (p.Arg280Gly) c.847A>G (p.Arg283Gly) | gnomAD v4 |
1 | g.21575738A>T | CA338880946 | ALPL | c.1003A>T (p.Arg335Ter) n.272A>T c.78A>T c.772A>T (p.Arg258Ter) c.838A>T (p.Arg280Ter) c.847A>T (p.Arg283Ter) | |
1 | g.21575739G>A | CA338880951 | ALPL | c.1004G>A (p.Arg335Lys) n.273G>A c.79G>A c.773G>A (p.Arg258Lys) c.839G>A (p.Arg280Lys) c.848G>A (p.Arg283Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575739G>C | CA16603569 | ALPL | c.1004G>C (p.Arg335Thr) n.273G>C c.79G>C c.773G>C (p.Arg258Thr) c.839G>C (p.Arg280Thr) c.848G>C (p.Arg283Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.21575739G= | CA1158019283 | ALPL | c.1004G= (p.Arg335=) n.273G= c.79G= c.773G= (p.Arg258=) c.839G= (p.Arg280=) c.848G= (p.Arg283=) | |
1 | g.21575739G>T | CA338880949 | ALPL | c.1004G>T (p.Arg335Ile) n.273G>T c.79G>T c.773G>T (p.Arg258Ile) c.839G>T (p.Arg280Ile) c.848G>T (p.Arg283Ile) | |
1 | g.21575740A>C | CA338880952 | ALPL | c.1005A>C (p.Arg335Ser) n.274A>C c.80A>C c.774A>C (p.Arg258Ser) c.840A>C (p.Arg280Ser) c.849A>C (p.Arg283Ser) | |
1 | g.21575740A>G | CA416532780 | ALPL | c.1005A>G (p.Arg335=) n.274A>G c.80A>G c.774A>G (p.Arg258=) c.840A>G (p.Arg280=) c.849A>G (p.Arg283=) | |
1 | g.21575740A>T | CA338880954 | ALPL | c.1005A>T (p.Arg335Ser) n.274A>T c.80A>T c.774A>T (p.Arg258Ser) c.840A>T (p.Arg280Ser) c.849A>T (p.Arg283Ser) | |
1 | g.21575741A>C | CA338880956 | ALPL | c.1006A>C (p.Ile336Leu) n.275A>C c.81A>C c.775A>C (p.Ile259Leu) c.841A>C (p.Ile281Leu) c.850A>C (p.Ile284Leu) | |
1 | g.21575741A>G | CA338880957 | ALPL | c.1006A>G (p.Ile336Val) n.275A>G c.81A>G c.775A>G (p.Ile259Val) c.841A>G (p.Ile281Val) c.850A>G (p.Ile284Val) | |
1 | g.21575741A>T | CA338880959 | ALPL | c.1006A>T (p.Ile336Phe) n.275A>T c.81A>T c.775A>T (p.Ile259Phe) c.841A>T (p.Ile281Phe) c.850A>T (p.Ile284Phe) | |
1 | g.21575742T>A | CA338880961 | ALPL | c.1007T>A (p.Ile336Asn) n.276T>A c.82T>A c.776T>A (p.Ile259Asn) c.842T>A (p.Ile281Asn) c.851T>A (p.Ile284Asn) | |
1 | g.21575742T>C | CA338880963 | ALPL | c.1007T>C (p.Ile336Thr) n.276T>C c.82T>C c.776T>C (p.Ile259Thr) c.842T>C (p.Ile281Thr) c.851T>C (p.Ile284Thr) | ClinVar dbSNP |
1 | g.21575742T>G | CA338880962 | ALPL | c.1007T>G (p.Ile336Ser) n.276T>G c.82T>G c.776T>G (p.Ile259Ser) c.842T>G (p.Ile281Ser) c.851T>G (p.Ile284Ser) | |
1 | g.21575742T= | CA1158019284 | ALPL | c.1007T= (p.Ile336=) n.276T= c.82T= c.776T= (p.Ile259=) c.842T= (p.Ile281=) c.851T= (p.Ile284=) | |
1 | g.21575743T>A | CA416532790 | ALPL | c.1008T>A (p.Ile336=) n.277T>A c.83T>A c.777T>A (p.Ile259=) c.843T>A (p.Ile281=) c.852T>A (p.Ile284=) | gnomAD v4 |
1 | g.21575743T>C | CA416532792 | ALPL | c.1008T>C (p.Ile336=) n.277T>C c.83T>C c.777T>C (p.Ile259=) c.843T>C (p.Ile281=) c.852T>C (p.Ile284=) | |
1 | g.21575743T>G | CA338880965 | ALPL | c.1008T>G (p.Ile336Met) n.277T>G c.83T>G c.777T>G (p.Ile259Met) c.843T>G (p.Ile281Met) c.852T>G (p.Ile284Met) | |
1 | g.21575744G>A | CA338880967 | ALPL | c.1009G>A (p.Asp337Asn) n.278G>A c.84G>A c.778G>A (p.Asp260Asn) c.844G>A (p.Asp282Asn) c.853G>A (p.Asp285Asn) | |
1 | g.21575744G>C | CA338880969 | ALPL | c.1009G>C (p.Asp337His) n.278G>C c.84G>C c.778G>C (p.Asp260His) c.844G>C (p.Asp282His) c.853G>C (p.Asp285His) | |
1 | g.21575744G>T | CA338880971 | ALPL | c.1009G>T (p.Asp337Tyr) n.278G>T c.84G>T c.778G>T (p.Asp260Tyr) c.844G>T (p.Asp282Tyr) c.853G>T (p.Asp285Tyr) | |
1 | g.21575745A= | CA1158019285 | ALPL | c.1010A= (p.Asp337=) n.279A= c.85A= c.779A= (p.Asp260=) c.845A= (p.Asp282=) c.854A= (p.Asp285=) | |
1 | g.21575745A>C | CA338880973 | ALPL | c.1010A>C (p.Asp337Ala) n.279A>C c.85A>C c.779A>C (p.Asp260Ala) c.845A>C (p.Asp282Ala) c.854A>C (p.Asp285Ala) | |
1 | g.21575745A>G | CA338880974 | ALPL | c.1010A>G (p.Asp337Gly) n.279A>G c.85A>G c.779A>G (p.Asp260Gly) c.845A>G (p.Asp282Gly) c.854A>G (p.Asp285Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575745A>T | CA338880975 | ALPL | c.1010A>T (p.Asp337Val) n.279A>T c.85A>T c.779A>T (p.Asp260Val) c.845A>T (p.Asp282Val) c.854A>T (p.Asp285Val) | |
1 | g.21575746C>A | CA338880977 | ALPL | c.1011C>A (p.Asp337Glu) n.280C>A c.86C>A c.780C>A (p.Asp260Glu) c.846C>A (p.Asp282Glu) c.855C>A (p.Asp285Glu) | |
1 | g.21575746C>G | CA338880979 | ALPL | c.1011C>G (p.Asp337Glu) n.280C>G c.86C>G c.780C>G (p.Asp260Glu) c.846C>G (p.Asp282Glu) c.855C>G (p.Asp285Glu) | |
1 | g.21575746C>T | CA416532810 | ALPL | c.1011C>T (p.Asp337=) n.280C>T c.86C>T c.780C>T (p.Asp260=) c.846C>T (p.Asp282=) c.855C>T (p.Asp285=) | ClinVar dbSNP |
1 | g.21575747C>A | CA338880980 | ALPL | c.1012C>A (p.His338Asn) n.281C>A c.87C>A c.781C>A (p.His261Asn) c.847C>A (p.His283Asn) c.856C>A (p.His286Asn) | |
1 | g.21575747C>G | CA338880981 | ALPL | c.1012C>G (p.His338Asp) n.281C>G c.87C>G c.781C>G (p.His261Asp) c.847C>G (p.His283Asp) c.856C>G (p.His286Asp) | |
1 | g.21575747C>T | CA338880983 | ALPL | c.1012C>T (p.His338Tyr) n.281C>T c.87C>T c.781C>T (p.His261Tyr) c.847C>T (p.His283Tyr) c.856C>T (p.His286Tyr) | |
1 | g.21575748A>C | CA338880985 | ALPL | c.1013A>C (p.His338Pro) n.282A>C c.88A>C c.782A>C (p.His261Pro) c.848A>C (p.His283Pro) c.857A>C (p.His286Pro) | |
1 | g.21575748A>G | CA338880988 | ALPL | c.1013A>G (p.His338Arg) n.282A>G c.88A>G c.782A>G (p.His261Arg) c.848A>G (p.His283Arg) c.857A>G (p.His286Arg) | |
1 | g.21575748A>T | CA338880987 | ALPL | c.1013A>T (p.His338Leu) n.282A>T c.88A>T c.782A>T (p.His261Leu) c.848A>T (p.His283Leu) c.857A>T (p.His286Leu) | |
1 | g.21575749C>A | CA338880989 | ALPL | c.1014C>A (p.His338Gln) n.283C>A c.89C>A c.783C>A (p.His261Gln) c.849C>A (p.His283Gln) c.858C>A (p.His286Gln) | |
1 | g.21575749C= | CA1142193131 | ALPL | c.1014C= (p.His338=) n.283C= c.89C= c.783C= (p.His261=) c.849C= (p.His283=) c.858C= (p.His286=) | |
1 | g.21575749C>G | CA338880991 | ALPL | c.1014C>G (p.His338Gln) n.283C>G c.89C>G c.783C>G (p.His261Gln) c.849C>G (p.His283Gln) c.858C>G (p.His286Gln) | |
1 | g.21575749C>T | CA666720 | ALPL | c.1014C>T (p.His338=) n.283C>T c.89C>T c.783C>T (p.His261=) c.849C>T (p.His283=) c.858C>T (p.His286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575749dup | CA913072854 | ALPL | c.1014dup (p.Gly339ArgfsTer4) n.283dup c.89dup c.783dup (p.Gly262ArgfsTer4) c.849dup (p.Gly284ArgfsTer4) c.858dup (p.Gly287ArgfsTer4) | |
1 | g.21575750G>A | CA338880993 | ALPL | c.1015G>A (p.Gly339Arg) n.284G>A c.90G>A c.784G>A (p.Gly262Arg) c.850G>A (p.Gly284Arg) c.859G>A (p.Gly287Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.21575750G>C | CA338880994 | ALPL | c.1015G>C (p.Gly339Arg) n.284G>C c.90G>C c.784G>C (p.Gly262Arg) c.850G>C (p.Gly284Arg) c.859G>C (p.Gly287Arg) | |
1 | g.21575750G>T | CA338880996 | ALPL | c.1015G>T (p.Gly339Trp) n.284G>T c.90G>T c.784G>T (p.Gly262Trp) c.850G>T (p.Gly284Trp) c.859G>T (p.Gly287Trp) | |
1 | g.21575752dup | CA666721 | ALPL | c.1017dup (p.His340AlafsTer3) n.286dup c.92dup c.786dup (p.His263AlafsTer3) c.852dup (p.His285AlafsTer3) c.861dup (p.His288AlafsTer3) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.21575751G>A | CA338880998 | ALPL | c.1016G>A (p.Gly339Glu) n.285G>A c.91G>A c.785G>A (p.Gly262Glu) c.851G>A (p.Gly284Glu) c.860G>A (p.Gly287Glu) | ClinVar |
1 | g.21575751G>C | CA338880999 | ALPL | c.1016G>C (p.Gly339Ala) n.285G>C c.91G>C c.785G>C (p.Gly262Ala) c.851G>C (p.Gly284Ala) c.860G>C (p.Gly287Ala) | |
1 | g.21575751G>T | CA338881000 | ALPL | c.1016G>T (p.Gly339Val) n.285G>T c.91G>T c.785G>T (p.Gly262Val) c.851G>T (p.Gly284Val) c.860G>T (p.Gly287Val) | |
1 | g.21575752G>A | CA416532836 | ALPL | c.1017G>A (p.Gly339=) n.286G>A c.92G>A c.786G>A (p.Gly262=) c.852G>A (p.Gly284=) c.861G>A (p.Gly287=) | ClinVar |
1 | g.21575752G>C | CA416532845 | ALPL | c.1017G>C (p.Gly339=) n.286G>C c.92G>C c.786G>C (p.Gly262=) c.852G>C (p.Gly284=) c.861G>C (p.Gly287=) | |
1 | g.21575752G= | CA1158019286 | ALPL | c.1017G= (p.Gly339=) n.286G= c.92G= c.786G= (p.Gly262=) c.852G= (p.Gly284=) c.861G= (p.Gly287=) | |
1 | g.21575752G>T | CA416532834 | ALPL | c.1017G>T (p.Gly339=) n.286G>T c.92G>T c.786G>T (p.Gly262=) c.852G>T (p.Gly284=) c.861G>T (p.Gly287=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575753C>A | CA338881003 | ALPL | c.1018C>A (p.His340Asn) n.287C>A c.93C>A c.787C>A (p.His263Asn) c.853C>A (p.His285Asn) c.862C>A (p.His288Asn) | |
1 | g.21575753C>G | CA338881004 | ALPL | c.1018C>G (p.His340Asp) n.287C>G c.93C>G c.787C>G (p.His263Asp) c.853C>G (p.His285Asp) c.862C>G (p.His288Asp) | |
1 | g.21575753C>T | CA338881005 | ALPL | c.1018C>T (p.His340Tyr) n.287C>T c.93C>T c.787C>T (p.His263Tyr) c.853C>T (p.His285Tyr) c.862C>T (p.His288Tyr) | ClinVar |
1 | g.21575754A= | CA1158019287 | ALPL | c.1019A= (p.His340=) n.288A= c.94A= c.788A= (p.His263=) c.854A= (p.His285=) c.863A= (p.His288=) | |
1 | g.21575754A>C | CA338881007 | ALPL | c.1019A>C (p.His340Pro) n.288A>C c.94A>C c.788A>C (p.His263Pro) c.854A>C (p.His285Pro) c.863A>C (p.His288Pro) | |
1 | g.21575754A>G | CA338881009 | ALPL | c.1019A>G (p.His340Arg) n.288A>G c.94A>G c.788A>G (p.His263Arg) c.854A>G (p.His285Arg) c.863A>G (p.His288Arg) | |
1 | g.21575754A>T | CA19070156 | ALPL | c.1019A>T (p.His340Leu) n.288A>T c.94A>T c.788A>T (p.His263Leu) c.854A>T (p.His285Leu) c.863A>T (p.His288Leu) | dbSNP |
1 | g.21575755C>A | CA338881011 | ALPL | c.1020C>A (p.His340Gln) n.289C>A c.95C>A c.789C>A (p.His263Gln) c.855C>A (p.His285Gln) c.864C>A (p.His288Gln) | |
1 | g.21575755C>G | CA338881012 | ALPL | c.1020C>G (p.His340Gln) n.289C>G c.95C>G c.789C>G (p.His263Gln) c.855C>G (p.His285Gln) c.864C>G (p.His288Gln) | |
1 | g.21575755C>T | CA416532854 | ALPL | c.1020C>T (p.His340=) n.289C>T c.95C>T c.789C>T (p.His263=) c.855C>T (p.His285=) c.864C>T (p.His288=) | |
1 | g.21575756C>A | CA338881013 | ALPL | c.1021C>A (p.His341Asn) n.290C>A c.96C>A c.790C>A (p.His264Asn) c.856C>A (p.His286Asn) c.865C>A (p.His289Asn) | |
1 | g.21575756C>G | CA338881015 | ALPL | c.1021C>G (p.His341Asp) n.290C>G c.96C>G c.790C>G (p.His264Asp) c.856C>G (p.His286Asp) c.865C>G (p.His289Asp) | |
1 | g.21575756C>T | CA338881017 | ALPL | c.1021C>T (p.His341Tyr) n.290C>T c.96C>T c.790C>T (p.His264Tyr) c.856C>T (p.His286Tyr) c.865C>T (p.His289Tyr) | |
1 | g.21575757A= | CA1158019288 | ALPL | c.1022A= (p.His341=) n.291A= c.97A= c.791A= (p.His264=) c.857A= (p.His286=) c.866A= (p.His289=) | |
1 | g.21575757A>C | CA338881018 | ALPL | c.1022A>C (p.His341Pro) n.291A>C c.97A>C c.791A>C (p.His264Pro) c.857A>C (p.His286Pro) c.866A>C (p.His289Pro) | gnomAD v4 |
1 | g.21575757A>G | CA338881020 | ALPL | c.1022A>G (p.His341Arg) n.291A>G c.97A>G c.791A>G (p.His264Arg) c.857A>G (p.His286Arg) c.866A>G (p.His289Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575757A>T | CA338881021 | ALPL | c.1022A>T (p.His341Leu) n.291A>T c.97A>T c.791A>T (p.His264Leu) c.857A>T (p.His286Leu) c.866A>T (p.His289Leu) | ClinVar |
1 | g.21575758T>A | CA338881022 | ALPL | c.1023T>A (p.His341Gln) n.292T>A c.98T>A c.792T>A (p.His264Gln) c.858T>A (p.His286Gln) c.867T>A (p.His289Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575758T>C | CA416532868 | ALPL | c.1023T>C (p.His341=) n.292T>C c.98T>C c.792T>C (p.His264=) c.858T>C (p.His286=) c.867T>C (p.His289=) | |
1 | g.21575758T>G | CA338881023 | ALPL | c.1023T>G (p.His341Gln) n.292T>G c.98T>G c.792T>G (p.His264Gln) c.858T>G (p.His286Gln) c.867T>G (p.His289Gln) | gnomAD v4 |
1 | g.21575758T= | CA1158019289 | ALPL | c.1023T= (p.His341=) n.292T= c.98T= c.792T= (p.His264=) c.858T= (p.His286=) c.867T= (p.His289=) | |
1 | g.21575759G>A | CA338881024 | ALPL | c.1024G>A (p.Glu342Lys) n.293G>A c.99G>A c.793G>A (p.Glu265Lys) c.859G>A (p.Glu287Lys) c.868G>A (p.Glu290Lys) | ClinVar |
1 | g.21575759G>C | CA338881025 | ALPL | c.1024G>C (p.Glu342Gln) n.293G>C c.99G>C c.793G>C (p.Glu265Gln) c.859G>C (p.Glu287Gln) c.868G>C (p.Glu290Gln) | |
1 | g.21575759G>T | CA338881026 | ALPL | c.1024G>T (p.Glu342Ter) n.293G>T c.99G>T c.793G>T (p.Glu265Ter) c.859G>T (p.Glu287Ter) c.868G>T (p.Glu290Ter) | gnomAD v4 |
1 | g.21575760A>C | CA338881029 | ALPL | c.1025A>C (p.Glu342Ala) n.294A>C c.100A>C c.794A>C (p.Glu265Ala) c.860A>C (p.Glu287Ala) c.869A>C (p.Glu290Ala) | |
1 | g.21575760A>G | CA338881028 | ALPL | c.1025A>G (p.Glu342Gly) n.294A>G c.100A>G c.794A>G (p.Glu265Gly) c.860A>G (p.Glu287Gly) c.869A>G (p.Glu290Gly) | |
1 | g.21575760A>T | CA338881027 | ALPL | c.1025A>T (p.Glu342Val) n.294A>T c.100A>T c.794A>T (p.Glu265Val) c.860A>T (p.Glu287Val) c.869A>T (p.Glu290Val) | gnomAD v4 |
1 | g.21575761A>C | CA338881031 | ALPL | c.1026A>C (p.Glu342Asp) n.295A>C c.101A>C c.795A>C (p.Glu265Asp) c.861A>C (p.Glu287Asp) c.870A>C (p.Glu290Asp) | |
1 | g.21575761A>G | CA416532879 | ALPL | c.1026A>G (p.Glu342=) n.295A>G c.101A>G c.795A>G (p.Glu265=) c.861A>G (p.Glu287=) c.870A>G (p.Glu290=) | |
1 | g.21575761A>T | CA338881030 | ALPL | c.1026A>T (p.Glu342Asp) n.295A>T c.101A>T c.795A>T (p.Glu265Asp) c.861A>T (p.Glu287Asp) c.870A>T (p.Glu290Asp) | |
1 | g.21575762G>A | CA338881032 | ALPL | c.1027G>A (p.Gly343Arg) n.296G>A c.102G>A c.796G>A (p.Gly266Arg) c.862G>A (p.Gly288Arg) c.871G>A (p.Gly291Arg) | |
1 | g.21575762G>C | CA338881033 | ALPL | c.1027G>C (p.Gly343Arg) n.296G>C c.102G>C c.796G>C (p.Gly266Arg) c.862G>C (p.Gly288Arg) c.871G>C (p.Gly291Arg) | |
1 | g.21575762G>T | CA338881034 | ALPL | c.1027G>T (p.Gly343Ter) n.296G>T c.102G>T c.796G>T (p.Gly266Ter) c.862G>T (p.Gly288Ter) c.871G>T (p.Gly291Ter) | |
1 | g.21575763G>A | CA338881035 | ALPL | c.1028G>A (p.Gly343Glu) n.297G>A c.103G>A c.797G>A (p.Gly266Glu) c.863G>A (p.Gly288Glu) c.872G>A (p.Gly291Glu) | ClinVar |
1 | g.21575763G>C | CA338881036 | ALPL | c.1028G>C (p.Gly343Ala) n.297G>C c.103G>C c.797G>C (p.Gly266Ala) c.863G>C (p.Gly288Ala) c.872G>C (p.Gly291Ala) | |
1 | g.21575763G>T | CA338881037 | ALPL | c.1028G>T (p.Gly343Val) n.297G>T c.103G>T c.797G>T (p.Gly266Val) c.863G>T (p.Gly288Val) c.872G>T (p.Gly291Val) | |
1 | g.21575764A>C | CA416532889 | ALPL | c.1029A>C (p.Gly343=) n.298A>C c.104A>C c.798A>C (p.Gly266=) c.864A>C (p.Gly288=) c.873A>C (p.Gly291=) | |
1 | g.21575764A>G | CA416532893 | ALPL | c.1029A>G (p.Gly343=) n.298A>G c.104A>G c.798A>G (p.Gly266=) c.864A>G (p.Gly288=) c.873A>G (p.Gly291=) | gnomAD v4 |
1 | g.21575764A>T | CA416532891 | ALPL | c.1029A>T (p.Gly343=) n.298A>T c.104A>T c.798A>T (p.Gly266=) c.864A>T (p.Gly288=) c.873A>T (p.Gly291=) | |
1 | g.21575765A>C | CA338881038 | ALPL | c.1030A>C (p.Lys344Gln) n.299A>C c.105A>C c.799A>C (p.Lys267Gln) c.865A>C (p.Lys289Gln) c.874A>C (p.Lys292Gln) | |
1 | g.21575765A>G | CA338881039 | ALPL | c.1030A>G (p.Lys344Glu) n.299A>G c.105A>G c.799A>G (p.Lys267Glu) c.865A>G (p.Lys289Glu) c.874A>G (p.Lys292Glu) | |
1 | g.21575765A>T | CA338881040 | ALPL | c.1030A>T (p.Lys344Ter) n.299A>T c.105A>T c.799A>T (p.Lys267Ter) c.865A>T (p.Lys289Ter) c.874A>T (p.Lys292Ter) | |
1 | g.21575766A>C | CA338881041 | ALPL | c.1031A>C (p.Lys344Thr) n.300A>C c.106A>C c.800A>C (p.Lys267Thr) c.866A>C (p.Lys289Thr) c.875A>C (p.Lys292Thr) | |
1 | g.21575766A>G | CA338881042 | ALPL | c.1031A>G (p.Lys344Arg) n.300A>G c.106A>G c.800A>G (p.Lys267Arg) c.866A>G (p.Lys289Arg) c.875A>G (p.Lys292Arg) | |
1 | g.21575766A>T | CA338881043 | ALPL | c.1031A>T (p.Lys344Ile) n.300A>T c.106A>T c.800A>T (p.Lys267Ile) c.866A>T (p.Lys289Ile) c.875A>T (p.Lys292Ile) | COSMIC |
1 | g.21575767A>C | CA338881045 | ALPL | c.1032A>C (p.Lys344Asn) n.301A>C c.107A>C c.801A>C (p.Lys267Asn) c.867A>C (p.Lys289Asn) c.876A>C (p.Lys292Asn) | |
1 | g.21575767A>G | CA416532905 | ALPL | c.1032A>G (p.Lys344=) n.301A>G c.107A>G c.801A>G (p.Lys267=) c.867A>G (p.Lys289=) c.876A>G (p.Lys292=) | |
1 | g.21575767A>T | CA338881044 | ALPL | c.1032A>T (p.Lys344Asn) n.301A>T c.107A>T c.801A>T (p.Lys267Asn) c.867A>T (p.Lys289Asn) c.876A>T (p.Lys292Asn) | |
1 | g.21575768G>A | CA338881046 | ALPL | c.1033G>A (p.Ala345Thr) n.302G>A c.108G>A c.802G>A (p.Ala268Thr) c.868G>A (p.Ala290Thr) c.877G>A (p.Ala293Thr) | |
1 | g.21575768G>C | CA338881047 | ALPL | c.1033G>C (p.Ala345Pro) n.302G>C c.108G>C c.802G>C (p.Ala268Pro) c.868G>C (p.Ala290Pro) c.877G>C (p.Ala293Pro) | |
1 | g.21575768G>T | CA338881048 | ALPL | c.1033G>T (p.Ala345Ser) n.302G>T c.108G>T c.802G>T (p.Ala268Ser) c.868G>T (p.Ala290Ser) c.877G>T (p.Ala293Ser) | |
1 | g.21575769C>A | CA338881049 | ALPL | c.1034C>A (p.Ala345Asp) n.303C>A c.109C>A c.803C>A (p.Ala268Asp) c.869C>A (p.Ala290Asp) c.878C>A (p.Ala293Asp) | |
1 | g.21575769C= | CA1158019290 | ALPL | c.1034C= (p.Ala345=) n.303C= c.109C= c.803C= (p.Ala268=) c.869C= (p.Ala290=) c.878C= (p.Ala293=) | |
1 | g.21575769C>G | CA338881050 | ALPL | c.1034C>G (p.Ala345Gly) n.303C>G c.109C>G c.803C>G (p.Ala268Gly) c.869C>G (p.Ala290Gly) c.878C>G (p.Ala293Gly) | |
1 | g.21575769C>T | CA338881051 | ALPL | c.1034C>T (p.Ala345Val) n.303C>T c.109C>T c.803C>T (p.Ala268Val) c.869C>T (p.Ala290Val) c.878C>T (p.Ala293Val) | ClinVar dbSNP |
1 | g.21575770C>A | CA416532918 | ALPL | c.1035C>A (p.Ala345=) n.304C>A c.110C>A c.804C>A (p.Ala268=) c.870C>A (p.Ala290=) c.879C>A (p.Ala293=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575770C= | CA1158019291 | ALPL | c.1035C= (p.Ala345=) n.304C= c.110C= c.804C= (p.Ala268=) c.870C= (p.Ala290=) c.879C= (p.Ala293=) | |
1 | g.21575770C>G | CA416532916 | ALPL | c.1035C>G (p.Ala345=) n.304C>G c.110C>G c.804C>G (p.Ala268=) c.870C>G (p.Ala290=) c.879C>G (p.Ala293=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575770C>T | CA416532914 | ALPL | c.1035C>T (p.Ala345=) n.304C>T c.110C>T c.804C>T (p.Ala268=) c.870C>T (p.Ala290=) c.879C>T (p.Ala293=) | ClinVar dbSNP |
1 | g.21575771A>C | CA338881052 | ALPL | c.1036A>C (p.Lys346Gln) n.305A>C c.111A>C c.805A>C (p.Lys269Gln) c.871A>C (p.Lys291Gln) c.880A>C (p.Lys294Gln) | |
1 | g.21575771A>G | CA338881053 | ALPL | c.1036A>G (p.Lys346Glu) n.305A>G c.111A>G c.805A>G (p.Lys269Glu) c.871A>G (p.Lys291Glu) c.880A>G (p.Lys294Glu) | |
1 | g.21575771A>T | CA338881054 | ALPL | c.1036A>T (p.Lys346Ter) n.305A>T c.111A>T c.805A>T (p.Lys269Ter) c.871A>T (p.Lys291Ter) c.880A>T (p.Lys294Ter) |